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Systolic blood pressure

RPTOR · rs139293840

Where this position leads

What the study found

Who was studied 130,777 Japanese ancestry individuals; replicated in 53,008 East Asian individuals, 105,253 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 2.36 higher (95% confidence interval 1.68-3.04); p = 9 × 10⁻¹².

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 17, band 17q25.3 — in an intron of RPTOR.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Systolic blood pressure compared to the general population.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Systolic blood pressure.

G/G Published research associates this genotype with typical/baseline likelihood of Systolic blood pressure — no copies of the reported risk allele.

Source

Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Takeuchi F, Akiyama M, Matoba N, Katsuya T, Nakatochi M, Tabara Y, Narita A, Saw WY, Moon S, Spracklen CN, Chai JF, Kim YJ

and 83 more — show all

Zhang L, Wang C, Li H, Li H, Wu JY, Dorajoo R, Nierenberg JL, Wang YX, He J, Bennett DA, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Rakugi H, Nakashima E, Isono M, Shirota M, Hozawa A, Ichihara S, Matsubara T, Yamamoto K, Kohara K, Igase M, Han S, Gordon-Larsen P, Huang W, Lee NR, Adair LS, Hwang MY, Lee J, Chee ML, Sabanayagam C, Zhao W, Liu J, Reilly DF, Sun L, Huo S, Edwards TL, Long J, Chang LC, Chen CH, Yuan JM, Koh WP, Friedlander Y, Kelly TN, Bin Wei W, Xu L, Cai H, Xiang YB, Lin K, Clarke R, Walters RG, Millwood IY, Li L, Chambers JC, Kooner JS, Elliott P, van der Harst P, Chen Z, Sasaki M, Shu XO, Jonas JB, He J, Heng CK, Chen YT, Zheng W, Zheng W, Lin X, Teo YY, Tai ES, Cheng CY, Wong TY, Sim X, Mohlke KL, Yamamoto M, Kim BJ, Miki T, Nabika T, Yokota M, Kamatani Y, Kubo M, Kato N

International Genomics of Blood Pressure (iGEN-BP) Consortium

Nature communications · 2018 · PMID 30487518 · open access

Questions about rs139293840

What is rs139293840?

rs139293840 is a single position in the genome, in or near the RPTOR gene. Published research associates it with systolic blood pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs139293840 linked to?

On MyGeneLog this position is linked to Blood Pressure. The research behind each link, and its sources, are set out on that condition page.

Does having rs139293840 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs139293840 come from?

GWAS Catalog, Nat Commun 2018, PMID:30487518. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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